Whole Exome Sequencing (WES)

Purpose: Identify genetic basis of constitutional disorders (Read for more details). To assist with analysis of the proband’s genetic data, our policy is to test the parents or two other related individuals are processed together from the blood collection stage through the completion of the analysis.
CPT Codes: 81415, 81416(2), 81417(For reinterpretation only)
Methodology: Agilent Sureselect capture and high throughput sequencing (Illumina HiSeq)
Turnaround Time: 120 days
Samples Tested: Anticoagulated blood in EDTA or Citrate, muscle biopsy, or high quality genomic DNA
Acceptance and Rejection Criteria: All specimens should carry two independent identifiers. Blood > 300 microliters, should be anti-coagulated, preferably with citrate or EDTA and should be less than a week old; muscle biopsy specimens (>50 mg) should be refrigerated from the time of biopsy to arrival to the lab; genomic DNA should be greater than 10kb median length. We optimally need 3 micrograms of genomic DNA at concentrations 50-200 ng/microliter. In addition, the standard acceptance and rejection criteria for specimens will apply.
Associated Documents Mutations and disease associated genes that fall into the Agilent SureSelect Region of capture/interest (ROI): please contact the laboratory for more information.
The reportable range of WES is the genomic region that we guarantee reporting on.  This corresponds to 95% of the Agilent ROI.  Predicted disease associated genes and mutations not guaranteed to be reported on (within the Agilent SureSelect ROI, but outside the reportable range 5%)
WES mutations not guaranteed 
Secondary Findings: ACMG Secondary Findings List
Forms: 1. Requisition Form/Medical Questionnaire
2. WES Informed Consent (Adults)
3. WES Informed Consent (Children)
4. Medicare Advance Beneficiary Notice Form
5. 1nsurance Pre-Authorization Form